摘要
目的探讨洛阳市汉族女性MTHFR、MTRR基因多态性的频率特征,以指导孕妇增补叶酸和出生缺陷一级预防。方法以洛阳市619例汉族女性为研究对象,检测MTHFR 677T、A1298C和MTRR A66G的基因分型。统计分析基因多态性的频率特征,并与已报道的其他地区汉族女性的数据进行比较。结果洛阳市汉族女性的MTHFR C677T位点TT纯合突变基因型频率为38.4%,高于湘潭、烟台、镇江、松滋、眉山、惠州、延边、琼海、乌鲁木齐、银川和南宁,差异均有统计学意义(P<0.05)。MTHFR A1298C位点CC纯合突变基因型频率为1.9%,高于湘潭、镇江、松滋、眉山、惠州、琼海和南宁,差异均有统计学意义(P<0.05)。MTRR A66G位点GG纯合突变基因型频率为4.7%,低于湘潭、烟台、松滋、琼海等地,差异有统计学意义(P<0.05)。结论洛阳市汉族女性MTHFR和MTRR基因多态性频率分布具有地域特异性。
Objective：To explore the genotype distribution of methylenetetrahydrofolate reductase（MTHFR）C677T,A1298 C and methionine synthase reductase（MTRR）A66G involved in the folic acid biosynthetic pathway among Chinese Han gestational age women in Luoyang. Methods：619 samples were recruited from Luoyang region in Henan province. Buccal samples were collected and genomic DNA was isolated. The detections of MTHFR and MTRR gene polymorphisms conducted with Taqman-MGB technology. The distribution of gene polymorphisms of this study was analyzed and compared with partial regions of China,which were reported. Results：619 samples were recruited from Xiangtan city. The detections of MTHFR C677 T,A1298C and MTRR A66 G genotyping was analyzed the distribution of gene polymorphisms and compared with the rest of the Han women had reported data. Conclusion：This study suggests that the gene polymorphism of MTHFR C677 T,A1298C and MTRR A66 G among the Han women in Luoyang was statistically different from partial other regions of China.
出处
《中国优生与遗传杂志》
2015年第8期32-34,共3页
Chinese Journal of Birth Health & Heredity
基金
中国疾病预防控制中心妇幼保健中心妇幼保健分子遗传医学研究专项计划(FY-ZX-ZD-0011)
关键词
亚甲基四氢叶酸还原酶
甲硫氨酸合成酶还原酶
单核苷酸多态性
Folic acid
Methylenetetrahydrofolate reductase（MTHFR）
Methionine synthase reductase（MTRR）
Polymorphism
